Noonan‐like syndrome with loose anagen hair associated with growth hormone insensitivity and atypical neurological manifestations

• Published in: American journal of medical genetics. Part A 2012-04, Vol.158A (4), p.856-860
• Main Authors: Capalbo, D., Melis, D., De Martino, L., Palamaro, L., Riccomagno, S., Bona, G., Cordeddu, V., Pignata, C., Salerno, M.
• Format: Article
• Language: English
• Subjects: Biological and medical sciences; Child; chronic tics; Diseases of the osteoarticular system; Female; GH insensitivity; Humans; Insulin-Like Growth Factor I - metabolism; Laron Syndrome - genetics; Loose Anagen Hair Syndrome - genetics; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Medical genetics; Medical sciences; Nervous system (semeiology, syndromes); Nervous system as a whole; Neurology; Noonan Syndrome - genetics; Noonan‐like syndrome with loose anagen hair; SHOC2; STAT5 Transcription Factor - metabolism; Tics - complications; Tics - genetics
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.35234

Noonan‐like syndrome with loose anagen hair (NS/LAH; OMIM 607721), recently related to the invariant c.4A>G missense change in SHOC2, is characterized by features reminiscent of Noonan syndrome. Ectodermal involvement, short stature associated with growth hormone (GH) deficiency (GHD), and cognitive deficits are common features. We report on a patient with molecularly confirmed NS/LAH exhibiting severe short stature associated with GH insensitivity (GHI), and chronic complex tics, a neurological feature never described before in this syndrome. IGF1 generation test revealed only a blunted increase in IGF1 after exogenous GH treatment, revealing mild GH insensitivity associated with proper STAT5 activation. Most common causes of secondary tics in childhood were excluded. © 2012 Wiley Periodicals, Inc.